Canonical Allele Identifier: CA345442011

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241680599G>T (hg19) ; chr1:g.241517299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517299G>T , CM000663.2:g.241517299G>T	GRCh38
NC_000001.10:g.241680599G>T , CM000663.1:g.241680599G>T	GRCh37
NC_000001.9:g.239747222G>T	NCBI36
NG_012338.1:g.7456C>A , LRG_504:g.7456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.653C>A
ENST00000682162.1:c.179C>A	ENSP00000508203.1:p.Ser60Tyr
ENST00000682567.1:n.227C>A
ENST00000683521.1:c.150C>A	ENSP00000506864.1:p.Phe50Leu
ENST00000684483.1:c.150C>A	ENSP00000507894.1:p.Phe50Leu
ENST00000366560.4:c.150C>A MANE Select	ENSP00000355518.4:p.Phe50Leu
ENST00000366560.3:c.150C>A	ENSP00000355518.3:p.Phe50Leu
ENST00000493477.1:n.263C>A
NM_000143.3:c.150C>A , LRG_504t1:c.150C>A	NP_000134.2:p.Phe50Leu
XM_011544132.1:c.-79C>A	XP_011542434.1:n.-79C>A
XM_011544132.2:c.-79C>A	XP_011542434.1:n.-79C>A
NM_000143.4:c.150C>A MANE Select	NP_000134.2:p.Phe50Leu